Orphanet Rep rt Series

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1 Prevalence of rare diseases : A bibliographic survey July 2007 Method By alphabetical list of diseases Orphanet Rep rt Series By decreasing prevalence By reported number of published cases Method A systematic survey of the literature is being performed in order to provide an estimate of the prevalence of rare diseases in Europe. An updated report will be published regularly and will replace the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made available. Search strategy The search strategy is carried out using several data sources: - Websites: Orphanet, e-medicine, GeneClinics, EMEA and OMIM - Medline is consulted using the search algorithm: «Disease names» AND [Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/abstract] OR Epidemiology[Title/abstract] - Medical books, grey literature and reports from experts are also important sources of data. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/general population life expectancy) - For the other rare diseases, prevalence = incidence x rare disease mean duration. NB: Life expectancy of the French population (78 years) is used as the general population life expectancy. Updated Data New information from available data sources: EMEA, new scientific publications, grey literature, expert opinion. Limitation of the study The exact prevalence rate of each rare disease is difficult to assess from the available data sources. There is a low level of consistency between studies, a poor documentation of methods used, confusion between incidence and prevalence, and/or confusion between incidence at birth and life-long incidence. The validity of the published studies is taken for granted and not assessed. It is likely that there is an overestimation for most diseases as the few published prevalence surveys are usually done in regions of higher prevalence and are usually based on hospital data. Therefore, these estimates are an indication of the assumed prevalence but may not be accurate. For any questions or comments, please contact us:

2 Prevalences by alphabetical list of diseases Disease name 2,4-dienoyl-CoA reductase deficiency Estimated prevalence (/100,000) or number of published cases or families 2,8 dihydroxyadenine urolithiasis 1,7 3C syndrome 3-hydroxy 3-methylglutaryl-CoA synthase 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency 3M syndrome methylcrotonylglycinuria 2,25 3-methylglutaconic aciduria, type 1 46 XX gonadal dysgenesis - epibulbar dermoid 46,XX disorders of sex development - skeletal anomalies 46,XY disorders of sex development due to 17- beta-hydroxysteroid dehydrogenase deficiency 4-hydroxybutyricaciduria 5-oxoprolinase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency Aarskog-Scott syndrome Aase-Smith syndrome Ablepharon-macrostomia syndrome Abruzzo-Erickson syndrome 0, > < 1 Acanthamoeba keratitis 1 Acalvaria <1** Acatalasemia 3,1 Aceruloplasminemia 0,05 Achalasia - microcephaly Achalasia, primary 37,5 Acheiropodia Achondrogenesis <10 families > Achondroplasia 4,5 Achromatopsia 2,5 Ackerman syndrome Acquired generalized lipodystrophy Acrocallosal syndrome, Schinzel type 80 cases 3 Acrocephalosyndactyly 4,6 Acrocraniofacial dysostosis Acrodermatitis enteropathica, zinc deficiency type 0,2 Acrofacial dysostosis autosomal recessive Acro-facial dysostosis postaxial, atypical Acro-facial dysostosis, Catania form Acrofacial dysostosis, Nager type Acro-facial dysostosis, Palagonia type Acro-facial dysostosis, Preis type 90 cases Acro-facial dysostosis, Rodriguez type Acro-fronto-facio-nasal dysostosis Acromegaloid facial appearance syndrome Acromegaloid facies - hypertrichosis < Acromegaly 5 Acromegaly - cutis verticis gyrata - corneal leukoma Acromelanosis Acromesomelic dysplasia Hunter-Thompson type Acromesomelic dysplasia, Brahimi-Bacha type Acromesomelic dysplasia, Maroteaux type Acromicric dysplasia Acroosteolysis, autosomal dominant Acro-pectoral syndrome Acropectororenal field defect Acropectorovertebral dysplasia Acrorenal syndrome Acrorenalmandibular syndrome Acrorenoocular syndrome 1 < < 2 1 < <20 families Acute interstitial pneumonia 3,8 Acute lymphoblastic leukemia 7,5 Acute non lymphoblastic leukemia 7 Acute promyelocytic leukemia 8 Acute Respiratory Distress Syndrome, Adult 30 Acyl-CoA dehydrogenase, medium chain, deficiency 15 Adactylia unilateral 34 Adamantinoma Adducted thumbs - arthrogryposis, Christian type Adducted thumbs - arthrogryposis, Dundar type Adenosine monophosphate deaminase deficiency Adenylosuccinate lyase deficiency 51 Adrenal hyperplasia, congenital 10 Adrenal hypoplasia congenital, X-linked 4 Adrenocortical carcinoma 1 Adrenoleukodystrophy, X-linked 3,5 Adult Onset Still s disease 1,23 ADULT syndrome Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 1 Agammaglobulinemia, X-linked 0,45 Agenesis of the corpus callosum - mental retardation - coloboma - micrognathia Aglossia - adactylia Agnathia - holoprosencephaly - situs inversus Agonadism - dextrocardia - diaphragmatic hernia Aicardi syndrome Aicardi-Goutieres syndrome < 500 cases

3 Alagille syndrome 1,4 Alar cartilages hypoplasia - coloboma - telecanthus Albers-Schonberg disease 1 Albinism ocular - late onset sensorineural deafness Albinism-deafness syndrome Albright hereditary osteodystrophy 0,72 Albright-like syndrome Alexander disease 300 cases Alkaptonuria 0,3 Alopecia - congenita keratosis palmoplantaris Alopecia - contractures - dwarfism - mental retardation Alopecia - epilepsy - pyorrhea - mental subnormality Alopecia - hypogonadism - extrapyramidal disorder 1 Alopecia totalis 10,5 Alpers syndrome 0,025 Alpha thalassemia-mental retardation, X-linked 16 Alpha-1 antitrypsin deficiency 20 Alpha-mannosidosis 0,1 Alpha-sarcoglycanopathy 0,57 Alport syndrome 2 Alström syndrome Alveolar echinococcosis 300 cases <1000 cases Alzheimer disease, familial 5,3 Amaurosis - hypertrichosis Amaurosis congenita of Leber 2,5 Ambras syndrome Amelia, autosomal recessive Aminopterin embryofetopathy 1 Amniotic bands 4** Amoebiasis due to free-living amoebae 1,75 Amyotrophic lateral sclerosis 6 Androgen insensitivity syndrome 13 Anemia, sideroblastic, X-linked - ataxia 5 families Anencephaly 3,2** Angelman syndrome 6,5 Angel-shaped phalango-epiphyseal dysplasia Angioma hereditary neurocutaneous 1 <10 families Angioneurotic edema 1 Angio-osteohypertrophic syndrome 1000 cases Aniridia 1,75 Aniridia - absent patella Aniridia - cerebellar ataxia - mental deficiency Aniridia - ptosis - mental retardation - obesity, familial type Aniridia - renal agenesis - psychomotor retardation Aniridia-mental retardation syndrome >10 families Anisakiasis 3,8 Ankyloblepharon - ectodermal defects - cleft lip palate Ankyloblepharon filiforme - imperforate anus 8 families Ankylosing vertebral hyperostosis - tylosis Anonychia - microcephaly Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges Anonychia with flexural pigmentation 1s Anophtalmia/microphthalmia, isolated 14 Anophthalmia - hypothalamo-pituitary insufficiency Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Anophthalmia - short stature - obesity Anophthalmia plus syndrome Anophthalmia/microphthalmia - esophageal atresia 1 Anorectal malformation 24 Antisynthetase syndrome 1,5 Antley-Bixler syndrome Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis Aortic aneurysm syndrome, Loeys-Dietz type Aortic arch anomaly - peculiar facies - mental retardation Aortic dilatation- joint hypermobility- arterial tortuosity Aorto-ventricular tunnel families 2 1 Apert syndrome 1,25 Aphalangia - syndactyly - microcephaly Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis Aplasia cutis - myopia Aplasia cutis congenita - intestinal lymphangiectasia Aplasia cutis congenita of limbs recessive Arachnodactyly - mental retardation - dysmorphism Arachnodactyly - ossification abnormal - mental retardation Aredyld syndrome Argininemia Arhinia - choanal atresia - microphthalmia Aromatase deficiency Arrhinia 3s 1 Arrhythmogenic right ventricular dysplasia 43,5 Arterial dissection - lentiginosis Arthritis-related enthesitis 5,7 Arthrogryposis - hyperkeratosis, lethal form Arthrogryposis - renal dysfunction - cholestasis Arthrogryposis iugr thoracic dystrophy <1 Arthrogryposis multiplex congenita 30 Arthrogryposis multiplex congenita - whistling face Ascher syndrome Astley-Kendall dysplasia Ataxia - apraxia - mental retardation, X-linked Ataxia - deafness - optic atrophy, lethal < 1 Ataxia telangiectasia 1

4 Ataxia, autosomal recessive, Beauce type Atelosteogenesis I Atelosteogenesis II Atelosteogenesis III Athabaskan brainstem dysgenesis syndrome Atherosclerosis- deafness - diabetes - epilepsy - nephropathy Atkin-Flaitz syndrome Atransferrinemia Atresia of small intestine 20 Atrial septal defect - atrioventricular conduction Atrial tachyarrhythmia with short PR interval 1s 1 Atrioventricular canal, partial 20 Atypical coarctation of aorta 0,17** Aughton syndrome Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculoocular anomalies - cleft lip Auro-cephalo-syndactyly Autism 45 Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy, type 1 4 Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities Babesiosis Bacterial toxic-shock syndrome 3 Bamforth syndrome Bangstad syndrome Banki syndrome Barber-Say syndrome Bardet-Biedl syndrome 0,8 Bartsocas-Papas syndrome 2 Bartter syndrome 0,12 B-cell chronic lymphocytic leukemia 32 Beckwith-Wiedemann syndrome 7,3 Beemer-Ertbruggen syndrome Behcet disease 2,5 Bencze syndrome Benign exophthalmos syndrome Benign paroxysmal torticolis of infancy Bernard-Soulier syndrome Best disease 4,4 Beta-mannosidosis 1 Beta-sarcoglycanopathy 0,57 Beta-ureidopropionase deficiency Bethlem myopathy Bickel-Fanconi glycogenosis 11 Biliary atresia 5,6 Biliary malformation - renal tubular insufficiency Birt-Hogg-Dube syndrome Björnstadt syndrome >60 families 3 Blackfan-Diamond disease 0,32 Blaichman syndrome Blepharo-cheilo-dontic syndrome Blepharo-facio-skeletal syndrome Blepharonasofacial malformation syndrome Blepharophimosis - ptosis - esotropia - syndactyly - short stature Blepharoptosis - myopia - ectopia lentis Bloom syndrome < > Blue cone monochromatism 1 Blue rubber bleb nevus Bone dysplasia - corpus callosum agenesis Bone dysplasia lethal, Holmgren type Bone dysplasia, Azouz type Bone fragility - craniosynostosis - proptosis hydrocephalus Bone sclerosing - dysplasia - ichthyosis - premature ovarian failure > Bone tumor 10 Bonnemann-Meinecke-Reich syndrome Book syndrome Boomerang dysplasia 2 BOR syndrome 2,5 Bosley-Salih-Alorainy syndrome Botulism 0,05 Boutonneuse fever 17 Bouwes-Bavinck syndrome Bowen-Conradi syndrome Brachio-skeleto-genital syndrome Brachydactyly - arterial hypertension Brachydactyly, long thumb type Brachymorphism - onychodysplasia - dysphalangism Brachytelephalangy - dysmorphism - Kallmann syndrome Braddock syndrome Bradyopsia Brain malformation - congenital heart disease - postaxial polydactyly Branchial arch syndrome, X-linked Branchiogenic deafness syndrome Branchio-oculo-facial syndrome 4 >10 families 5 à < Breast cancer, familial 17 Bronchopneumopathy, chronic, due to TAP deficiency Bronchopulmonary dysplasia 13 Budd-Chiari syndrome 1,5 Buerger s disease 12,5 Bullous dystrophy macular type Bullous ichthyosiform - erythroderma congenita 0,4 Bullous pemphigoid 2,5 Bullous systemic lupus erythematosus Buttiens-Fryns syndrome 70 cases

5 CADASIL syndrome 500 cases Calpainopathy 3,8 Calvarial doughnut lesions - bone fragility CAMFAK syndrome CAMOS syndrome Campomelia Cumming type Campomelic dysplasia 0,35 Camptobrachydactyly Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Camptodactyly - tall stature - scoliosis - hearing loss Camptodactyly - taurinuria Camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 2 Camurati-Engelmann disease 4 families Cantrell pentalogy 0,55** Capillary leak syndrome 5 Carbamoylphosphate synthetase deficiency 0,7 Carcinoma of the gallbladder 6,5 Cardiac conduction disease, dilated cardiomyopathy and brachydactyly Cardiogenital syndrome Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - renal anomalies Cardiomyopathy, familial dilated 17,5 Carey-Fineman-Ziter syndrome Carney complex Carnitine palmitoyl transferase 1 deficiency Carnitine palmitoyl transferase 2 deficiency Carnitine-acylcarnitine translocase deficiency Carnosinemia Caroli s disease Carpenter syndrome Carpotarsal osteochondromatosis Carpotarsalosteolysis, autosomal recessive Castleman disease Cataract - ataxia - deafness Cataract - cardiomyopathy Cataract - deafness - hypogonadism Cataract - hypertrichosis - mental retardation Cataract - mental retardation - hypogonadism Cataract - microphthalmia - septal defect Cataract - nephropathy - encephalopathy 1 3 > <2 < < 400 cases Cataract anterior polar 4,4 Cataract congenital, Volkmann type Cataract, Hutterite type < Cataract total, congenital 7,9 Cataract-glaucoma Cataract-microcornea syndrome Catel-Manzke syndrome 8 families 2 Cat-eye syndrome 1,35 Cat-scratch disease 6,6 Caudal dysgenesis familial type CDG syndrome 1,5** CDG syndrome type Ia CDG syndrome type Ib CDG syndrome type Ic CDG syndrome type Id CDG syndrome type Ie CDG syndrome type If CDG syndrome type Ig CDG syndrome type Ih CDG syndrome type Ii CDG syndrome type IIa CDG syndrome type IIb CDG syndrome type IId CDG syndrome type IIe CDG syndrome type Ij CDG syndrome type Ik CDG syndrome type IL CEDNIK syndrome Celiac disease - epilepsy - occipital calcifications Central neurocytoma Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss > 300 cases > 170 cases > 1- Cerebellar ataxia, autosomal dominant 2,15 Cerebellar ataxia, autosomal recessive 7 Cerebral arteriovenous fistula 6 Cerebral gigantism - jaw cysts Cerebro-costo-mandibular syndrome Cerebro-oculo-nasal syndrome Cerebroretinal vasculopathy < Ceroid lipofuscinosis, neuronal 4 Cervical hypertrichosis - peripheral neuropathy CHAND syndrome Chaotic atrial tachycardia Char syndrome > Charcot-Marie-Tooth disease (generic term) 32,5 Charcot-Marie-Tooth disease, X-linked 1,6 CHARGE association 0,14 Chediak-Higashi syndrome CHILD syndrome Choanal atresia - deafness - cardiac defects dysmorphism > Cholangiocarcinoma 10 Cholestasis - lymphoedema, syndrome Cholestasis - pigmentary retinopathy - cleft palate Cholesteryl ester storage disease Chondrodysplasia - disorder of sex development Chondrodysplasia - situs inversus- imperforate anus - polydactyly 20- <

6 Chondrodysplasia lethal, recessive Chondrodysplasia punctata, rhizomelic type 1 Chondrodysplasia, Blomstrand type 1 Chordoma 0,05 Chorioretinal atrophy, progressive bifocal Choroidal atrophy - alopecia Choroidal dystrophy, central areolar 3,33 Choroideremia 2 Choroideremia - deafness - obesity Choroidocerebral calcification syndrome, infantile form Christ-Siemens-Touraine syndrome 0,35 Chromosome Y deletion 42 Chronic hiccup 1 Chronic inflammatory demyelinating polyneuropathy Chronic recurrent multifocal osteomyelitis, juvenile 4,4 >2 Churg-Strauss syndrome 1 Chylomicron retention disease CINCA syndrome Cleft lip - retinopathy Cleft lip palate - malrotation - cardiopathy Cleft lip palate - mental retardation - corneal opacities Cleft palate - cardiac defect - genital anomalies - ectrodactyly Cleft palate - short stature - vertebral anomalies Cleft palate - stapes fixation - oligodontia Cleft palate-lateral synechia syndrome Cleido-rhizomelic syndrome Clouston syndrome 1 Cloverleaf skull syndrome COACH syndrome 1 Coats disease 2 Cobb syndrome Cockayne syndrome 3 Coffin-Lowry syndrome 0,55 Coffin-Siris syndrome Cogan syndrome Cohen syndrome Collagenous colitis 10,5 Coloboma of macula - brachydactyly type B Coloboma uveal - cleft lip palate - mental retardation 1 1 Coloboma, ocular 1 Colobomatous - microphthalmia - heart disease - hearing loss Cone rod dystrophy 2,5 Cone rod dystrophy - amelogenesis imperfecta Congenital alopecia, X linked Congenital anosmia, isolated Congenital brain dysgenesis due to glutamine synthetase deficiency 2 <1 < Congenital bronchobiliary fistula Congenital cataracts - facial dysmorphism - neuropathy Congenital ichthyosis - microcephalus - quadriplegia Congenital indifference to pain 2 > Congenital lobar emphysema 4,5 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital myasthenic syndromes 0,75 Congenital rubella syndrome 1** Contractures - ectodermal dysplasia - cleft lip palate Cooper-Jabs syndrome Corneal anesthesia - deafness - mental retardation Corneal crystals - myopathy - neuropathy Corneal crystals myopathy neuropathy Corneal dystrophy - ichthyosis - microcephaly - mental retardation Corneal dystrophy - perceptive deafness Corneal-cerebellar syndrome < Cornelia de Lange syndrome 5,25 Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Corpus callosum agenesis - neuronopathy 19 Corpus callosum dysgenesis, X-linked recessive Corpus callosum, agenesis - cataract - immunodeficiency Cortical blindness - mental retardation - polydactyly 1s Corticobasal degeneration 4 Corticosteroid-sensitive aseptic abscesses Costello syndrome Costocoracoid ligament congenitally short 4 Cowden syndrome 0,45 Coxo-auricular syndrome Coxo-podo-patellar syndrome Craniodiaphyseal dysplasia 4 > Cranio-digital syndrome - mental retardation Cranio-ectodermal dysplasia Craniofacial conodysplasia Cranio-facial dysmorphism - coloboma - corpus callosum agenesis 1 Craniofacial dyssynostosis 0,05 Craniofacial-deafness-hand syndrome Craniofaciocardioskeletal syndrome Craniofrontonasal dysplasia - poland anomaly Craniofrontonasal syndrome, Teebi type Craniolenticulosutural dysplasia Craniometaphyseal dysplasia Cranioosteoarthropathy Craniosynostosis - brachydactyly Craniosynostosis - Dandy Walker hydrocephalus 2s 70 cases

7 Craniosynostosis - fibular aplasia Craniosynostosis - intracranial calcifications Craniosynostosis radial aplasia, Imaizumi type Craniosynostosis, Boston type Craniosynostosis, Philadelphia type Craniotubular syndrome 1 Creutzfeldt-Jakob disease 0,1 Crigler-Najjar syndrome Crisponi syndrome 1 Criss-cross heart 0,8 Crouzon disease 2 Cryoglobulinemia 1,33* Cryptomicrotia - brachydactyly - excess fingertip arch Cryptosporidiosis 34 Curry-Jones syndrome Cutaneous albinism, ermine phenotype Cutaneous lymphoma 8,3 Cutaneous mastocytosis 0,75 Cutaneous neuroendocrine carcinoma 0,5 Cutaneous photosensitivity - colitis lethal Cutis gyrata - acanthosis nigricans - craniosynostosis Cutis laxa Cutis marmorata telangiectatica congenita > 300 cases Cutis verticis gyrata - mental deficiency 1,02 Cutis verticis gyrata - thyroid aplasia - mental retardation Cyprus facial neuromusculosqueletal syndrome Cystathioninuria 7 Cystic fibrosis 12 Cystic hamartoma of lung and kidney Cystic hygroma lethal - cleft palate < Cystinosis 0,5 Cystinuria 14 Cystoid macular dystrophy Dacryocystitis osteopoikilosis Dahlberg-Borer-Newcomer syndrome Dandy Walker - macrocephaly Dandy Walker malformation - postaxial polydactyly 6 families Darier disease 1,5 Deaf - blind - hypopigmentation Deafness - enamel hypoplasia - nail defects Deafness - lymphoedema - leukemia Deafness - opticoacoustic nerve atrophy - dementia Deafness - peripheral neuropathy - arterial disease Deafness - skeletal dysplasia - lip granuloma Deafness - tubular acidosis - anemia Deafness - vitiligo - achalasia Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA < 8 Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB Deafness, X-linked, non syndromic, sensorineural, type DFN Deafness-infertility syndrome Deafness-mental retardation, Martin-Probst type Deafness-mental retardation, Martin-Probst type Defective expression of HLA class 2 Dehydratase deficiency Deletion 18p Deletion 2q ,6 2s < 2 Delta-sarcoglycanopathy 0,57 DEND syndrome Dentinogenesis imperfecta - short stature - hearing loss - mental retardation 1 Dentatorubral pallidoluysian atrophy <0,3 Denys-Drash syndrome Depigmentation of the iris, acute, bilateral 1 Dermatitis herpetiformis 20,2 Dermato-cardio-skeletal syndrome, Borrone type Dermatofibrosarcoma protuberans 10 Dermatoleukodystrophy Dermatomyositis 14,8 Dermatoosteolysis, Kirghizian type Dermoodontodysplasia Dermopathy restrictive lethal Desbuquois syndrome Desmosterolosis Developmental delay due to 2-methylbutyryl-coA dehydrogenase deficiency Developmental dysphasia familial Developmental malformations - deafness - dystonia 1 > < 6 families Diabetes insipidus, nephrogenic 0,5 Diabetes mellitus, neonatal 0,2 Diabetes, neonatal - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys Diaphanospondylodysostosis Diaphragmatic defect - limb deficiency - skull defect Diaphragmatic hernia - exomphalos - corpus callosum agenesis < 1 Diaphragmatic hernia, congenital 15 Diastrophic dwarfism 3,5 Diffuse leiomyomatosis with Alport syndrome 0,1 Diffuse neonatal haemangiomatosis Diffuse palmoplantar keratoderma - acrocyanosis Diffuse palmoplantar keratoderma, Norrbotten dominant type Digito-reno-cerebral syndrome <70 cases 2,5 < Digitotalar dysmorphism 6 Dihydropteridine reductase deficiency Dihydropyrimidinuria 13

8 Dincsoy-Salih-Patel syndrome Disorder of sex development - mental retardation Distal monosomy 5q Distal monosomy 8p Distal myopathy with vocal cord weakness 1 Distal myopathy, Nonaka type 0,1 Distal myopathy, Welander type 10 Distal myopathy, with early respiratory muscle involvement Distal myopathy, with posterior leg and anterior upper limb involvement DOOR syndrome Dopamine beta-hydroxylase, deficiency of 2 1 < 1 Dopa-responsive dystonia 0,3 Double outlet left ventricle Double uterus - hemivagina - renal agenesis Duane anomaly - myopathy - scoliosis 3 < Duane syndrome 10 Dubowitz syndrome Duker-Weiss-Siber syndrome 1 Duodenal atresia 8,55 Duplication 8q Dyggve-Melchior-Clausen disease Dyschondrosteosis - nephritis > Dyserythropoietic anemia, congenital 1 Dyskeratosis congenita 0,1 Dysmorphism - short stature - deafness - pseudohermaphroditism Earlobes, thickened - conductive deafness Early infantile epileptic encephalopathy Early myoclonic encephalopathy 8 Early onset torsion dystonia 0,4 Ear-patella-short stature syndrome 4 Ebstein anomaly 0,75 Ectodermal dysplasia - alopecia - preaxial polydactyly Ectodermal dysplasia - arthrogryposis - diabetes mellitus Ectodermal dysplasia - blindness Ectodermal dysplasia - mental retardation - syndactyly Ectodermal dysplasia - absent dermatoglyphics Ectodermal dysplasia anhidrotic - immunodeficiency - osteopetrosis - lymphedema Ectodermal dysplasia, «pure» hair-nail type Ectodermal dysplasia, Berlin type Ectodermal dysplasia, hypohidrotic - hypothyroidism - ciliary dyskinesia Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia-skin fragility syndrome Ectodermic dysplasia - hypothyroidism - cleft Ectopia lentis - chorioretinal dystrophy - myopia < Ectopia lentis isolated 6,4 Ectrodactyly - ectodermal dysplasia EEM syndrome Ehlers-Danlos syndrome type 10 7 families Ehlers-Danlos syndrome, classic type 3,5 Ehlers-Danlos syndrome, type 3 12,5 Ehlers-Danlos syndrome, type 4 1 Ehlers-Danlos syndrome, type 5 Ehlers-Danlos syndrome, type 7C Ehrlichiosis Eiken syndrome Elejalde syndrome < Elliptocytosis, hereditary 37,5 Ellis Van Creveld syndrome 1 Emery-Dreifuss muscular dystrophy 1,5 Enamel hypoplasia cataract hydrocephaly Encephalo-cranio-cutaneous lipomatosis Encephalopathy due to hydroxykynureninuria Encephalopathy with neuroserpin inclusion bodies, familial form Enchondromatosis Eng-Strom syndrome Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic pneumonia, acute idiopathic Epidermal nevus syndrome Epidermolysis bullosa simplex - limb girdle muscular dystrophy Epidermolysis bullosa, acquired 4 < >5 families > 600 cases 280 cases > >400 cases Epidermolysis bullosa, dystrophic 0,27 Epidermolysis bullosa, epidermolytic 2,5 Epidermolysis bullosa, junctional 0,06 Epilepsy - microcephaly - skeletal dysplasia Epilepsy - telangiectasia Epilepsy, pyridoxin-dependent 0,15 Epiphyseal dysplasia multiple 5 Episodic ataxia, type 3 Episodic ataxia, type 4 Erdheim-Chester disease Erythermalgia, primary Erythroderma lethal, congenital Erythrokeratodermia - ataxia Erythrokeratodermia variabilis, Mendes da Costa type families 1 2 > Esophageal carcinoma 8 Esthesioneuroblastoma <1000 cases Evans syndrome 0,1 Ewing sarcoma 0,1 Exostoses, multiple 4 Eyebrow duplication syndactyly Fabry disease 1,75

9 Facial clefting - corpus callosum - agenesis Facial dysmorphism - macrocephaly - myopia - Dandy Walker Facial onset sensory - motor neuronopathy Faciocardiomelic dysplasia, lethal Facio-scapulo-humeral muscular dystrophy 7 Factor II deficiency 10 Factor V deficiency 0,1 Factor VII deficiency 0,25 Factor XIII deficiency, congenital 0,04 Fahr syndrome Familial adenomatous polyposis, autosomal dominant <20 families 5,25 Familial cold urticaria 0,1 Familial dysautonomia Familial hematuria, autosomal dominant - retinal arteriolar tortuosity - contractures Familial platelet syndrome with predisposition to acute myelogenous leukemia Familial rectal pain families Familial venous malformations 40 Fanconi - ichthyosis - dysmorphism Fanconi anaemia 1 Femur-fibula-ulna complex 1,5 Fetal cytomegalovirus syndrome 40 Fetal methyl-mercury syndrome Fetal varicella syndrome 800 cases > Fibrinogen deficiency, congenital 0,15 Fibrochondrogenesis 1s Fibrodysplasia ossificans progressiva 0,08 Fibromatosis, gingival - progressive deafness Fibular aplasia - ectrodactyly Fibular dimelia - diplopodia Fine-Lubinsky syndrome Fingerprints absence - syndactyly milia Flynn-Aird syndrome Focal dermal hypoplasia < 1s cases Focal dystonia 11,7 Focal facial dermal dysplasia Focal myositis Folate malabsorption, hereditary <10 families 1 Follicular lymphoma 36 Foveal hypoplasia presenile cataract 1s Fragile X syndrome 14,25 Fraser syndrome Freeman-Sheldon syndrome Fried Syndrome 1 Friedreich ataxia 2,5 Fronto-metaphyseal dysplasia < Frontotemporal dementia 3 Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) Fructose intolerance 5 Fructose-1,6-bisphosphatase deficiency 2,5 Fryns syndrome 7** Fucosidosis Fuhrmann syndrome Fumaric aciduria Fuqua-Berkovitz syndrome 1s > Galactosemia 6,6 Galloway-Mowat syndrome Gamma aminobutyric acid transaminase deficiency Gamma-glutamyl transpeptidase deficiency Gamma-glutamylcysteine synthetase deficiency Gamma-sarcoglycanopathy 1,96 GAPO syndrome Gardner-Morrison-Abbot syndrome 2 Gastric cancer 20 Gastrointestinal stromal tumor 1,8 Gastroschisis 12 Gaucher - ichthyosis - restrictive dermopathy Gaucher disease 1 Gaucher disease, type 1 0,94 Gaucher disease, type 2 0,01 Gaucher disease, type 3 0,05 Geleophysic dwarfism 2 Gelineau disease 49 Gemss syndrome Genitopatellar syndrome German syndrome Geroderma osteodysplastica Giant cell arteritis 8,9 Giant pigmented hairy nevus 2 Glaucoma-sleep apnea Glioblastoma 11 Global developmental delay - osteopenia - ectodermal defect Glomerulonephritis - sparse hair - telangiectases Glossopalatine ankylosis - cataracts - digital anomalies Glucocorticoid deficiency, familial Glucose-galactose malabsorption Glucosephosphate isomerase deficiency < Glutaryl-CoA dehydrogenase deficiency 0,4 Glutathione synthetase deficiency 6 Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease, type 2 1,1 Glycogen storage disease, type 4 0,6 Glycogen storage disease, type 7 Glycogen storage, type 0 Goldberg-Shprintzen megacolon syndrome < 1 Goldenhar syndrome 3,5 Goldmann-Favre syndrome <

10 Gombo syndrome Gonadal dysgenesis, XX type 12 Gonadal dysgenesis, XY type - associated anomalies Goodman syndrome Goodpasture syndrome 0,64 Gorham-Stout disease Gorlin syndrome 1 Gorlin-Chaudhry-Moss, syndrome GRACILE syndrome 2,12** Graft versus host disease 3,4 Grange syndrome Granulomatous arthritis of childhood 40 families Granulomatous disease, chronic 0,2 Granulomatous slack skin Gräsbeck-Imerslund disease Gray platelet syndrome < 300 cases Great vessels transposition (TGV) 32,5 Greenberg dysplasia Greig syndrome Griscelli disease Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate Growth retardation - microcephaly - digital abnormalities - hypospadias GTP cyclohydrolase I deficiency Guanidinoacetate methyltransferase deficiency < 1 Guillain-Barré syndrome 47,5 Haemolytic anaemia due to glutathione reductase deficiency Haemolytic anaemia, nonspherocytic, due to hexokinase deficiency Hair defect - photosensitivity - mental retardation Hallermann-Streiff-Francois syndrome 17 families < Harding ataxia 1 Hartnup syndrome 4 Heart defects - limb shortening Hec syndrome Helicoid peripapillary chorioretinal degeneration Hemimelia 4,15 Hemiplegic migraine, familial 6,5 Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia, lethal - genital anomalies 1 Hemophilia 7,7 Hemophilia, acquired 0,1 Hemorrhagic disorders due to collagen receptors deficiency Hennekam syndrome Hennekam-Beemer syndrome > Hepatic veno-occlusive disease 11 Hepatic veno-occlusive disease - immunodeficiency <2 Hepatitis, chronic autoimmune 0,65 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Hereditary sensory and autonomic neuropathy, type 2 Hereditary vascular retinopathy Hereditary vascular retinopathy HERNS syndrome 1 3 Herpes simplex encephalitis 0,021* Hersh-Podruch-Weisskopf syndrome Heterotaxia 2,5 Hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Halal type Hirschsprung disease 20 Hirschsprung disease - deafness - polydactyly Hirschsprung disease - nail hypoplasia - dysmorphism Histidinemia 4 Hodgkin lymphoma 10,5 Holoprosencephaly 7 Holt-Oram syndrome 1 Homocarnosinosis Homocystinuria due to cystathionine beta-synthase deficiency Huntington disease 6,2 Hyaluronidase deficiency Hydrocephalus - blue sclerae - nephropathy Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Hydrocephaly - tall stature - joint laxity 0,4 Hydrolethalus 5** Hydrops ectrodactyly syndactyly Hypercoagulability syndrome, due to glycosylphosphatidylinositol deficiency Hyperferritinemia, hereditary, with congenital cataracts >6 Hyperglycinemia, isolated nonketotic 0,2 Hyper-IGM syndrome, autosomal recessive 0,05** Hyperimmunoglobinemia D - recurrent fever 180 cases Hyperkalemic periodic paralysis 0,75 Hyperkeratosis - hyperpigmentation syndrome Hyperlipidemia type 3 7,8 Hyperlipoproteinemia type 1 0,6 Hyperoxaluria 0,2 Hypertrichosis - brachydactyly - obesity - mental retardation Hypertrichosis cubiti - short stature Hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa, acquired Hypertrichotic osteochondrodysplasia 2 < 1 Hypochondroplasia 3,3 Hypocomplementaemic leucocytoclasic vasculitis Hypogammaglobulinemia due to CD19 deficiency < 10

11 Hypogonadism - retinitis pigmentosa Hypokalemic periodic paralysis 1 Hypokeratosis, palmo-plantar, circumscribed Hypomagnesemia with hypocalciuria Hypomagnesemia with normocalciuria Hypomandibular facio-cranial dysostosis Hypomyelination - congenital cataract Hypomyelination - hypogonadotropic hypogonadism - hypodonti Hypomyelination - hypogonadotropic hypogonadism - hypodontia Hypoparathyroidism - deafness - renal disease Hypoparathyroidism familial isolated Hypoparathyroidism X-linked Hypopituitarism - microphthalmia Hypopituitarism - postaxial polydactyly Hypotelorism - cleft palate - hypospadias Hypothyroidism - dermoid cyst - cleft palate 1 1 <10 families < 1 Hypothyroidism, congenital 29 Hypotrichosis - lymphedema - telangiectasia Hypotrichosis simplex Hypotrichosis-mental retardation lopes type IBIDS syndrome ICF syndrome Ichthyosis - alopecia - ectropion - mental retardation Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichthyosis - male hypogonadism Ichthyosis - oral and digital anomalies Ichthyosis bullosa of Siemens Ichthyosis congenita - biliary atresia Ichthyosis congenita, harlequin type Ichthyosis - deafness - mental retardation - skeletal anomalies Ichthyosis follicularis-atrichia-photophobia syndrome Ichthyosis prematurity syndrome 3 1 < 16 families Ichthyosis, X-linked 16,6 Idiopathic hypereosinophilic syndrome 10 Idiopathic hypersomnia 4 IMAGe syndrome Iminoglycinuria 6,68 Immune dysregulation - polyendocrinopathy - enteropathy, X linked Immunodeficiency due to interleukin-1 receptorassociated kinase-4 deficiency Immunodeficiency due to selective antipolysaccharide antibody deficiency Immunodeficiency with natural-killer cell deficiency 7 families <1 Immunodeficiency, common variable 7,5 Inappropriate antidiuretic hormone secretion syndrome Inclusion body myositis, IBM 0,49 Incontinentia pigmenti 0,2 Infant epilepsy with migrant focal crisis Infantile neuroaxonal dystrophy Inflammatory pseudotumor of the liver Infundibulopelvic stenosis - multicystic kidney Insomnia, familial fatal Insulin resistance, short fifth metacarpals Intellectual deficit, severe - epilepsy - anal anomalies - distal phalangeal hypoplasia Internal carotid agenesis Interstitial granulomatous dermatitis - arthritis Intrathoracic kidney vertebral fusion Iris coloboma with ptosis - intellectual deficit Iris dysplasia - hypertelorism - deafness Isotretinoin-like syndrome 2 > Isovaleric acidemia 1 IVIC syndrome Jackson-Weiss syndrome Jacobsen syndrome 4 families 1 Jeune syndrome 0,2 Job syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome 2 2 < Joubert syndrome 0,85 Juberg-Hayward syndrome Juvenile arthritis, idiopathic 41,8 Juvenile hyaline fibromatosis 40- Juvenile idiopathic arthritis, systemic-onset 6,3 Juvenile macular degeneration, hypotrichosis Juvenile temporal arteritis 7 families Kabuki syndrome 1,16 Kaler-Garrity-Stern syndrome Kallmann syndrome 0,66 Kaposi s sarcoma 1,7 Kapur-Toriello syndrome Kartagener syndrome 2,5 Kasabach-Merritt syndrome KBG syndrome Kearns-Sayre syndrome > Kennedy disease 2,8 Keratoderma - epithelioma - dental abnormalitieshypogonadism Keratoderma - hypotrichosis - leukonychia Keratoderma palmoplantar - deafness Keratoderma palmoplantar - spastic paralysis Keratosis follicularis - dwarfism - cerebral atrophy <10 families 2 Keratosis palmaris et plantaris - clinodactyly <20 Ketoacidosis due to betaketothiolase deficiency KID syndrome Kimura disease > 11

12 Klippel-Feil syndrome 2 Kniest-like dysplasia, lethal Krabbe disease 0,75** Kudo-Tamura-Fuse syndrome Lacrimo-auriculo-dento-digital syndrome Lambert-Eaton myasthenic syndrome 1 Lamellar ichthyosis >0,33 Langerhans cell histiocytosis 2 Larsen syndrome Laryngeal abductor paralysis - mental retardation Laryngotracheoesophageal cleft 1,5 Lateral body wall complex 2** Lathosterolosis LCAT deficiency < 80 cases Leber hereditary optic neuropathy 6,5 Legg-Calve-Perthes disease 23 Leigh disease 2,75** Lennox-Gastaut syndrome 15 Lenz-Majewski hyperostotic dwarfism LEOPARD syndrome >70 cases Leprechaunism 0,1** Leptospirosis 0,24 Lesch-Nyhan syndrome 0,38 Lethal osteosclerotic bone dysplasia 8 families Leucinosis 15,6 Leukemia, chronic myeloid 6 Leukocyte adhesion deficiency Leukodystrophy with oligodontia Leukoencephalopathy - metaphyseal chondrodysplasia Leukoencephalopathy - palmoplantar keratoderma Lewis-Pashayan syndrome <3 Lewis-Sumner syndrome 0,9 Lhermitte-Duclos disease Lichstenstein syndrome Li-Fraumeni syndrome Limb-mammary syndrome Lipoamide dehydrogenase deficiency Lipodystrophy - mental retardation - deafness families 2 Lipodystrophy, Berardinelli type 0,25 Lipodystrophy, familial partial, associated with PPARG mutations Lipodystrophy, familial partial, due to AKT2 mutations Lipodystrophy, familial partial, Dunnigan type Lipodystrophy, familial partial, Köbberling type Lipodystrophy, partial acquired Lipoid proteinosis Lissencephaly - immunodeficiency cases 2 >280 cases Lissencephaly type 1, due to LIS 1 anomalies 0,3 Lissencephaly type 2 0,12 Lissencephaly type III - familial fetal akinesia sequence Lissencephaly type III - metacarpal bone dysplasia Liver disease - retitinitis pigmentosa - polyneuropathy - epilepsy Long QT syndrome, familial 25 Lopez-Hernandez syndrome Low birth weight - dwarfism - dysgammaglobulinemia 1s Lowe syndrome 0,19 Lumbosacral vertebrae, posterior fusion of - blepharoptosis Lung cancer, small cell 5 Lymphangioleiomyomatosis 0,1 Lymphoblastic lymphoma 10 Lymphoedema - atrial septal defects - facial changes Lymphoedema - cerebral arteriovenous anomaly Lymphoedema, congenital 8,8 Macrocephaly - cutis Marmorata Telangiectatica Congenita Macrocephaly - immune deficiency - anemia Macrocephaly - short stature - paraplegia Macroepiphyseal dysplasia, Macalister Coe type Macrogyria - pseudobulbar palsy Macrophagic myofasciitis 1 Macrostomia - preauricular tags - external ophthalmoplegia Malakoplasia 500 cases Malignant hyperthermia 33 Malignant hyperthermia - arthrogryposis - torticollis Malonic aciduria Mandibuloacral dysplasia 1 3 Mantle cell lymphoma 3,9 Marden-Walker syndrome Marfan syndrome 30 Marie Unna, congenital - hypotrichosis Marinesco-Sjogren syndrome Marshall s syndrome with periodic fever Marshall-Smith syndrome Martinez-Monasterio-Pinheiro syndrome MASA syndrome 3,5 Maternal hyperphenylalaninemia 1,25 Matthew-Wood syndrome Mayer-Rokitansky-Küster-Hauser syndrome 9 McCune-Albright syndrome 15 Meckel syndrome 4** Meconium aspiration syndrome 2,44 Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps Medullary cystic kidney disease, autosomal dominant > 0,11 12

13 Megacystis microcolon - intestinal hypoperistalsis - hydronephrosis Megaepiphyseal dwarfism Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus MEHMO syndrome MEHMO syndrome 8 Melanoma, familial 46,8 MELAS syndrome 16 Melorheostosis 300 cases Mendelian susceptibility to atypical mycobacteria 0,059 Meniere s disease 42,5 Menkes syndrome 0,7 Mental retardation - cubitus valgus - unusual facies Mental retardation - dysmorphism - hypogonadism - diabetes mellitus Mental retardation - hypoplastic corpus callosum - preauricular tag Mental retardation - microcephaly - phalangeal - facial abnormalities Mental retardation - progressive spasticity, X-linked Mental retardation - sparse hair - brachydactyly Mental retardation multiple nevi Mental retardation X-linked - dysmorphism Mental retardation X-linked - psychosis - macroorchidism Mental retardation X-linked - seizures - short stature - midface hypoplasia Mental retardation, choreoathesis and abnormal behavior Mental retardation, X linked - precocious puberty - obesity Mental retardation, X-linked - acromegaly - hyperactivity Mental retardation, X-linked - Dandy Walker malformation - Basal ganglia disease - Seizures Mental retardation, X-linked - epilepsy - progressive joint contractures - typical face Mental retardation, X-linked - hypogammaglobulinemia - progressive neurological deterioration Mental retardation, X-linked - hypogonadism - ichthyosis - obesity - short stature Mental retardation, X-linked - hypotonia - facial dysmorphism - aggressive behavior Mental retardation, X-linked - macrocephaly - macro-orchidism Mental retardation, X-linked - seizures - psoriasis Mental retardation, X-linked - Spastic paraplegia with iron deposits Mental retardation, X-linked recessive - macrocephaly - ciliary dysfunction Mental retardation, X-linked severe, Gustavson type Mental retardation, X-linked, Abidi type Mental retardation, X-linked, Armfield type Mental retardation, X-linked, Cabezas type Mental retardation, X-linked, Cantagrel type Mental retardation, X-linked, Lubs type Mental retardation, X-linked, Miles-Carpenter type Mental retardation, X-linked, Pai type Mental retardation, X-linked, Reish type Mental retardation, X-linked, Schimke type Mental retardation, X-linked, Seemanova type Mental retardation, X-linked, Shashi type Mental retardation, X-linked, Shrimpton type Mental retardation, X-linked, Siderius type Mental retardation, X-linked, Snyder type Mental retardation, X-linked, South African type Mental retardation, X-linked, Stevenson type Mental retardation, X-linked, Stocco Dos Santos type Mental retardation, X-linked, Stoll type Mental retardation, X-linked, syndromic 7 Mental retardation, X-linked, syndromic, due to JARID1C mutation Mental retardation, X-linked, Vitale type Mental retardation, X-linked, Wilson type Mental retardation, X-linked, with isolated growth hormone deficiency Mental retardation, X-linked, Zorick type 1s 1 <10 families MERRF syndrome 0,9 Mesomelic dysplasia - skin dimples Metachromatic leukodystrophy 0,16 Metaphyseal acroschyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, Jansen type Metaphyseal dysplasia hypertelorism hypospadias Metatropic dwarfism Methimazole embryofetopathy Methylmalonic acidemia - homocystinuria Methylmalonic aciduria - microcephaly - cataract Mevalonicaciduria Michels syndrome Micro syndrome Microbrachycephaly - ptosis - cleft lip Microcephalic osteodysplastic dysplasia, Saul- Wilson type Microcephaly - cardiomyopathy Microcephaly - cleft palate Microcephaly - glomerulonephritis - marfanoid habitus Microcephaly - micropenis - convulsions Microcephaly - seizures - mental retardation - heart disease Microcephaly syndactyly brachymesophalangy Microcoria - congenital nephrosis Microcytic anemia - liver iron overload - low ferritinemia Microdontia - type I microtia - deafness cases 2 13

14 Microgastria - limb reduction defect Microlissencephaly - micromelia Microphthalmia - brain atrophy 1 Microscopic polyangiitis 7,5 Microtia 15 Midas syndrome Midline cleft of lower lip < 70 cases Mitochondrial diseases of nuclear origin 9 Mitochondrial encephalomyopathy - aminoacidopathy Mitral regurgitation - deafness - skeletal anomalies Mixed dystonias Moebius syndrome Mohr-Tranebjaerg syndrome Molarization of anterior teeth deafness Molybdenum cofactor deficiency 300 cases 4 > Monosomy 22q11 20 Monosomy 22q13 > Monosomy 5p 4,6 Monosomy 9q22.3 Moore-Federman syndrome Mosaic variegated aneuploidy syndrome Mowat-Wilson syndrome 2 < Moya-Moya disease 3,16 Mucolipidosis type 2 0,15** Mucolipidosis type 4 > Mucopolysaccharidosis type 1 1,3 Mucopolysaccharidosis type 2 0,6 Mucopolysaccharidosis type 3 1,1 Mucopolysaccharidosis type 4 0,4 Mucopolysaccharidosis type 6 0,16** Mucopolysaccharidosis type 7 Mucosulfatidosis Muir-Torre syndrome Mullerian derivatives - lymphangiectasia - polydactyly <40cases 20 Multifocal motor neuropathy with conduction block 1,5 Multiple endocrine neoplasia, type 1 11 Multiple endocrine neoplasia, type 2 3,3 Multiple fibrofolliculoma familial Multiple joint dislocations metaphyseal dysplasia Multiple pterygium syndrome, autosomal dominant Multiple pterygium syndrome, lethal form Multiple sclerosis - ichthyosis - factor VIII deficiency Multiple system atrophy 4,6 MURCS association 11,25 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Muscular dystrophy congenital, merosin negative 0,3 Muscular dystrophy congenital, merosin-positive 0,15 Muscular dystrophy congenital, with integrin deficiency 0,03 Muscular dystrophy Fukuyama type 0,54 Muscular dystrophy limb-girdle 0,8 Muscular dystrophy, Duchenne and Becker types 5 Muscular dystrophy, limb girdle, autosomal recessive, type 2G Muscular dystrophy, limb girdle, autosomal recessive, type 2I Muscular dystrophy, limb-girdle, autosomal dominant, type 1A Muscular dystrophy, limb-girdle, autosomal dominant, type 1D Muscular dystrophy, limb-girdle, autosomal dominant, type 1E Muscular dystrophy, limb-girdle, autosomal dominant, type 1F Muscular dystrophy, limb-girdle, autosomal dominant, type 1G 1 >40 families 5 families 5 families Myasthenia gravis 8,5 Myelodysplastic syndromes 25 Myelofibrosis with myeloid metaplasia 10 Myeloma, multiple 14,25 Myhre syndrome Myoclonus - cerebellar ataxia - deafness Myoclonus hereditary - progressive distal muscular atrophy Myoneurogastrointestinal encephalopathy syndrome Myopathy - lactic acidosis - sideroblastic anemia Myopathy due to calsequestrin and SERCA1 protein overload Myopathy, X-linked, with excessive autophagy N syndrome N-acetyl-alpha-D-galactosaminidase deficiency 1 < 70 cases 15 families 1 Naegeli-Franceschetti-Jadassohn syndrome 0,035 Nail patella-like renal disease Nail-patella syndrome 2 Nance-Horan syndrome Nanism due to growth hormone qualitative anomaly 50 families Nanism due to growth hormone resistance 0,2 NARP syndrome 8,5 Nasopalpebral lipoma - coloboma - telecanthus Nasopharyngeal teratoma - Dandy Walker - diaphragmatic hernia Necrotizing encephalopathy, acute, autosomal dominant < 1s Nemaline myopathy 1 Neonatal death - immune deficiency Neonatal hemochromatosis Nephroblastoma 10,1 Nephronophthisis, autosomal recessive 1,05 Nephronophtisis familial - adult spastic quadriparesis 14

15 Nephropathy - deafness - hyperparathyroidism Nephropathy familial with gout Nephrosis - deafness - urinary tract and digital malformations 57 families Nephrotic syndrome, steroid-sensitive 18 Netherton disease 1,35 Neu laxova syndrome Neuroaxonal dystrophy - renal tubular acidosis 50- Neuroblastoma 10 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegenerative syndrome, X-linked, Bertini type Neurodegenerative syndrome, X-linked, Hamel type Neuroectodermal endocrine syndrome Neuroendocrine tumor 1 Neurofibromatosis, type 1 25 Neurofibromatosis, type 2 0,5 Neurometabolic disorder due to serine deficiency Neuropathy hereditary with liability to pressure palsies Neuropathy, giant axonal < 9 > 20 families Neutropenia severe congenital 0,33** Neutropenia, severe congenital, X-linked Nevo syndrome Nevus of ota - retinitis pigmentosa Niemann-Pick disease 2,5** Niemann-Pick disease, type A 0,25** Niemann-Pick disease, type B 0,75** Niemann-Pick disease, type C 0,85 Nijmegen-breakage syndrome 1 Nodular regenerative hyperplasia of the liver 3 Non-distal trisomy 10p Non-Hodgkin malignant lymphoma 36 Norrie disease North Carolina macular dystrophy Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay Obesity due to congenital leptin deficiency Obesity due to prohormone convertase-i deficiency Obesity due to pro-opiomelanocortin deficiency Ochoa syndrome 300 cases < > Ocular albinism X-linked, recessive 2 Ocular motor apraxia, Cogan type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type 3 Oculocutaneous albinism 7,15 Oculodental syndrome rutherfurd syndrome Oculo-dento-osseous dysplasia, autosomal dominant Oculo-dento-osseous dysplasia, autosomal recessive 24 Oculo-digito-esophageal-duodenal syndrome (ODED) Oculogastrointestinal muscular dystrophy Oculoosteocutaneous syndrome Oculo-oto-facial dysplasia Oculo-palato-cerebral syndrome < Oculopharyngeal muscular dystrophy 1 Oculo-tricho-dysplasia Odonto-micronychial dysplasia Odontoonychodermal dysplasia Odonto-onycho-hypohidrotic dysplasia - midline scalp defects Odontotrichomelic syndrome Odonto-tricho-ungual-digito-palmarn syndrome <1 2s Oesophageal atresia 25 Okamoto syndrome Oligoarticular chronic arthritis 20,5 Oligocone trichromacy Olmsted syndrome Omodysplasia 1 3 Omphalocele 12 Omphalocele-cleft palate syndrome, lethal Ondine syndrome 2,25 Onycho-tricho-dysplasia - neutropenia Ophthalmo acromelic syndrome Opitz BBB/G syndrome 3 Opsismodysplasia 2 Optic atrophy 6 Optic atrophy and cataract, autosomal dominant Orbital leiomyoma 1 1 Orofaciodigital syndrome, type 1 1,2 Orofaciodigital syndrome, type 10 Orofaciodigital syndrome, type 3 Orofaciodigital syndrome, type 4 Orofaciodigital syndrome, type 5 Orofaciodigital syndrome, type 6 Orofaciodigital syndrome, type 8 Orotic aciduria hereditary Ossification anomalies - psychomotor development delay ou Osteochondritis dissecans 35 Osteochondrodysplasia thrombocytopenia hydrocephalus Osteocraniostenosis Osteodysplasty, Melnick-Needles type 1 > Osteogenesis imperfecta 6,5 Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit Osteogenesis imperfecta congenita - microcephaly - cataracts Osteopathia striata - cranial sclerosis Osteopetrosis autosomal dominant, type

16 Osteopetrosis lethal Osteopetrosis, intermediate form Osteopetrosis, malignant 0,75** Osteopoikilosis - short stature - intellectual deficit Osteoporosis oculo-cutaneous hypopigmentation syndrome Osteoporosis pseudoglioma syndrome 0,05 Osteosarcoma 5 Osteosclerosis - ichthyosis - premature ovarian failure Otodental syndrome Otopalatodigital syndrome Overhydrated hereditary stomatocytosis P2Y12 deficiency Pachydermoperiostosis Pachyonychia congenita Pacman dysplasia Paget disease, juvenile type Pallister-Hall syndrome Palmoplantar keratoderma - amyotrophy Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar porokeratosis of Mantoux Pancreas agenesis Pancreatic and cerebellar agenesis Pancreatic hypoplasia - diabetes - heart disease Pancreatic lipomatosis - duodenal stenosis 9 families > 20 families 20 2 < > < Pancreatitis, hereditary 0,125 Pancreatoblastoma Papillon-Lefevre syndrome 0,25 Papulosis, malignant atrophic Paraplegia - brachydactyly - cone-shaped epiphysis Paraplegia - mental retardation - hyperkeratosis Paraplégie spastique - glaucome - déficit intellectuel PARC syndrome > Parietal foramina 5 Parkinson disease, genetic types 15 Parkinsonism, young adult onset 37,5 Paroxysmal nocturnal hemoglobinuria 0,55 Parsonage-Turner syndrome 3,3 Patella hypoplasia skeletal malformations Pearson syndrome Pelizaeus-Merzbacher disease 0,25 PELVIS syndrome Pemphigus paraneoplastic 1s > Pemphigus superficial 1,2 Pemphigus vulgaris 3,8 Pendred syndrome 5,5 Perinatal-lethal Gaucher disease 0,01 Peritoneal leiomyomatosis, disseminated Perlman syndrome Persistent hyperinsulinemic hypoglycemia of infancy Persistent Mullerian duct syndrome Peters-plus syndrome 2 < Peutz-Jeghers syndrome 2,2 Pfeiffer syndrome 0,38 Pfeiffer-Singer-Zschiesche syndrome PHACE syndrome < Phenylketonuria 4 Pheochromocytoma and paraganglioma, secreting 10 Phosphoenolpyruvate carboxykinase (PEPCK) deficiency Phosphoglycerate kinase 1 deficiency Phosphoribosylpyrophosphate synthetase superactivity Phytosterolemia PIBIDS syndrome < 2 <30 families Piebaldism 0,25 Pierre Robin syndrome 8,75 Pili torti - onychodysplasia Pilodental dysplasia with refractive errors Pityriasis rubra pilaris Plagiocephaly - mental retardation, X-linked Platelet syndrome, familial Plummer-Vinson syndrome Podder-tolmie syndrome Poikiloderma of Kindler 4 <20 families 2 Poland anomaly 2 Pollitt syndrome Polyarteritis nodosa 3,07 Polyarthritis, rheumatic factor-negative 8 Polyarthritis, rheumatoid factor-positive 4,2 Polycystic kidney disease, autosomal recessive 6,5 Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy Polycystic ovaries - urethral sphincter dysfunction 0,15 3 Polycythemia vera 25 Polydactyly postaxial 50 Polydactyly preaxial 25 Polymorphic catecholergic ventricular tachycardia 10 Polymyositis 14,8 Polysyndactyly - cardiac malformation Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 2 Porencephaly, familial Posterior column ataxia - retinitis pigmentosa 6 families < 10 families 1 Post-transplant lymphoproliferative disease 26,2 Potocki-Shaffer syndrome 2 Prader-Willi syndrome 10,7 Preauricular pits - renal disease Primary biliary cirrhosis 13,5 Primary ciliary dyskinesia 5 16

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